A2V (p.Ala2Val) variant of MCM3 (P25205)
A2V (p.Ala2Val) in MCM3 (P25205) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs754556530
- NCI-TCGA Cosmic COSV5771
- cosmic curated COSV57718
- ExAC rs754556530
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)